Protein Name galactosidase, beta 1
Organism Mus musculus
Gene ID 12091
Gene Symbol

Glb1

UniProt P23780 (BGAL_MOUSE), Q3TAW7 (Q3TAW7_MOUSE)
Relationships Total Number of functionally related compound(s) : 328
Total Number of Articles : 340
Description

galactosidase, beta 1

Gene Summary

This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

synonyms
  • beta-galactosidase
  • acid beta-galactosidase
  • lactase
Click to show/hide the synonyms
Properties